Search Results - "SKOVBY, F"

Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load by Schmock, H., Stevenson, Matt P., Hanebaum, S., Vangkilde, A., Rosengren, A., Weinsheimer, S.M., Skovby, F., Olesen, C., Ullum, H., Baaré, W.F.C., Siebner, H.R., Didriksen, M., Werge, T., Olsen, L., Jepsen, J.R.M.

“…The 22q11.2 deletion syndrome (22q11.2DS) is associated with high psychiatric morbidity. However, large phenotypic heterogeneity hampers early detection of…”
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Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor by Ejerskov, C., Farholt, S., Skovby, F., Vestergaard, E.M., Haagerup, A.

“…The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss‐of‐function mutations in…”
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Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties by Callum, P., Messiaen, L.M., Bower, P.V., Skovby, F., Iger, J., Timshel, S., Sims, C.A., Falk, R.E.

“…BACKGROUND Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of…”
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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome by Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

“…Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid…”
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FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature by Blomberg, M, Jeppesen, E M, Skovby, F, Benfeldt, E

“…Fibroblast growth factor receptor 3 (FGFR3) gene mutations in the germline are well-known causes of skeletal syndromes. Somatic FGFR3 mutations have been found…”
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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype by Kjaergaard, S, Schwartz, M, Skovby, F

“…AIMS To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent…”
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A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype by Lund, AM, Joensen, F, Christensen, E, Dunø, M, Skovby, F, Schwartz, M

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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands by Lund, A. M, Joensen, F, Hougaard, D. M, Jensen, L. K, Christensen, E, Christensen, M, Nørgaard-Petersen, B, Schwartz, M, Skovby, F

“…Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and…”
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Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase by Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E.

“…Massive urinary excretion of xanthurenic acid, 3‐hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria, in a young Somali boy…”
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Causality of myelodysplasia and acute myeloid leukemia and their genetic abnormalities by PEDERSEN-BJERGAARD, J, CHRISTIANSEN, D. H, ANDERSEN, M. K, SKOVBY, F

“…New insights into causative factors for the development of myelodysplasia (MDS) and acute myeloid leukemia (AML), with associations to specific cytogenetic and…”
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Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients by Duno, M., Skovby, F., Schwartz, M.

“…Summary Background: Haploinsufficiency of the NSD1 gene leads to Sotos syndrome (Sos), which is characterised by excessive growth, especially during childhood,…”
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Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study by Jensen, Ulrich Glumer, Brandt, Niels Jacob, Christensen, Ernst, Skovby, Flemming, Norgaard-Pedersen, Bent, Simonsen, Henrik

“…Classic galactosemia (OMIM 230400) is an inherited disorder in the metabolism of galactose caused by deficiency of the enzyme galactose 1-phosphate uridyl…”
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Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia) by Kjaergaard, S, Müller, J, Skovby, F

“…Aims: To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) in order to identify critical…”
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Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder by GOOTJES, J, SKOVBY, F, CHRISTENSEN, E, WANDERS, R. J. A, FERDINANDUSSE, S

“…To determine the enzymatic defect in a patient with ataxia, dysarthric speech, dry skin, hypotonia, and absent reflexes. The patient was previously diagnosed…”
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Anthropometry of patients with osteogenesis imperfecta by Lund, Allan M, Müller, Jørn, Skovby, Flemming

“…Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone–insulin-like growth factor I (IGF-I) axis were…”
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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG by Aebi, M, Helenius, A, Schenk, B, Barone, R, Fiumara, A, Berger, Eg, Hennet, T, Imbach, T, Stutz, A, Bjursell, C, Uller, A, Wahlström, Jg, Briones, P, Cardo, E, Clayton, P, Winchester, B, Cormier-dalre, V, de Lonlay, P, Cuer, M, Dupré, T, Seta, N, de Koning, T, Dorland, L, de Loos, F, Kupers, L, Fabritz, L, Hasilik, M, Marquardt, T, Niehues, R, Freeze, H, Grünewald, S, Heykants, L, Jaeken, J, Matthijs, G, Schollen, E, Xkeir, G Keir, Kjaergaard, S, Schwartz, M, Skovby, F, Klein, A, Roussel, P, Körner, C, Lübke, T, Thiel, C, von Figura, K, Koscielak, J, Krasnewich, D, Lehle, L, Peters, V, Raab, M, Saether, O, Schachter, H, Van Schaftingen, E, Verbert, A, Vilaseca, A, Wevers, R, Yamashita, K

“…During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid. Up to this…”
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Collagen-derived markers of bone metabolism in osteogenesis imperfecta by Lund, AM, Hansen, M, Kollerup, G, Juul, A, Teisner, B, Skovby, F

“…Markers of bone formation [C‐terminal and N‐terminal propeptides of procollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption…”
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The natural history of homocystinura due to cystathionine β-synthase deficiency by MUDD, S. H, SKOVBY, F, FOWLER, B, GROBE, H, SCHMIDT, H, SCHWEITZER, L, LEVY, H. L, PETTIGREW, K. D, WILCKEN, B, PYERITZ, R. E, ANDRIA, G, BOERS, G. H. J, BROMBERG, I. L, CERONE, R

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Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online by Lund, A M, Aström, E, Söderhäll, S, Schwartz, M, Skovby, F

“…Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen I. We report four novel glycine substitutions, one in the a1 (I) chain of…”
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Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV by Lund, AM, Nicholls, AC, Schwartz, M, Skovby, F

“…Protein‐chemical and molecular studies were conducted on all osteogenesis imperfecta (OI) type III/IV patients referred to our hospital during the last 15 y…”
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